E14V (p.Glu14Val) variant of ANK2 (Ankyrin-2)
E14V (p.Glu14Val) in ANK2 (Ankyrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E14V (p.Glu14Val) variant details
- p.Glu14Val
- rs1326514629
- gnomAD 4-113145939-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- CADD 19.40
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.31
- Literature evidence available